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SCN5A c.-53+8001C>G
Variant ID: 3-38683021-G-C
NM_000335.5(
SCN5A
):c.-53+8001C>G
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Heart Enhancers: Development and Disease Control at a Distance.
Frontiers In Genetics
Yuan, Xuefei X; Scott, Ian C IC; Wilson, Michael D MD
Publication Date: 2021
Variant appearance in text: rs13097780
PubMed Link:
33777110
Variant Present in the following documents:
Main text
fgene-12-642975.pdf
View BVdb publication page
Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Kapoor, Ashish A; Lee, Dongwon D; Zhu, Luke L; Soliman, Elsayed Z EZ; Grove, Megan L ML; Boerwinkle, Eric E; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2019-05-28
Variant appearance in text: rs13097780
PubMed Link:
31068470
Variant Present in the following documents:
Main text
View BVdb publication page